A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry (LysoNeo)

May 21, 2026 updated by: University Hospital, Rouen

The study will include all newborns in Normandie region for 3 years (about 105,000 births) for whom signed consent by one (or two) parents will be collected. Based on our previous pilot study (2011) assessing MCAD and PKU using tandem mass spectrometry-based method in Normandie region in which informed consents have been signed for all newborns (43,000) but we are expecting a great willingness to participate to this project. Thus, we are aiming to include 100,000 newborns, and the study will be continued until we reach at least this target.

The primary objective is to evaluate the epidemiology of MPS1 and Pompe disease using dried blood samples in the first cohort of neonates tested in France (Normandie region).

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

100000

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • France
      • Caen, France
        • Recruiting
        • Caen University Hospital
        • Contact:
          • David GUENET, MD
      • Rouen, France

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

3 years to 3 years (Child)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Newborn

Description

Inclusion Criteria:

  • Newborn in a Normandy maternity hospital
  • Newborn participating in the National Neonatal Screening Program
  • Holder(s) of parental authority having read and understood the information letter and signed the informed consent form

Exclusion Criteria:

There are no criteria for non-inclusion in this study. Participation in the study, such as participation in the National Neonatal Screening Program, is not mandatory.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
neonates tested in Normandie, France
All neonates will be tested in Normandie
Procedure: Additional blood sampling
Additional blood sampling on blotting paper will be done in neonates in Normandy, France, compared to National neonatal screening program

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Number of newborns in relation to the number of cases of blotting paper collected
Time Frame: From day 2 to day 4
From day 2 to day 4

Secondary Outcome Measures

Outcome Measure
Time Frame
Number of newborns with positive sample for Mucopolysaccharidosis type I
Time Frame: From day 2 to day 4
From day 2 to day 4
Number of newborns with positive sample for Pompe disease
Time Frame: From day 2 to day 4
From day 2 to day 4

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Rouen

Collaborators

University Hospital, Caen

Investigators

  • Principal Investigator: Soumeya BEKRI, Pr, University Hospital, Rouen

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

March 8, 2021

Primary Completion (Estimated)

December 8, 2026

Study Completion (Estimated)

December 8, 2026

Study Registration Dates

First Submitted

May 14, 2020

First Submitted That Met QC Criteria

May 14, 2020

First Posted (Actual)

May 19, 2020

Study Record Updates

Last Update Posted (Actual)

May 27, 2026

Last Update Submitted That Met QC Criteria

May 21, 2026

Last Verified

May 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2020/0007/HP

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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